Search
Now showing items 111-120 of 138
Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases.
(2017-03)
Cutis Verticis Gyrata-Intellectual Disability (CVG-ID) syndrome is a rare neurocutaneous syndrome characterized by intellectual disability and scalp folds and furrows that are typically absent at birth and are first noticed ...
7p22.1 microduplication syndrome: Refinement of the critical region.
(2017-02)
7p22.1 microduplication syndrome is mainly characterized by developmental and speech delay, craniofacial dysmorphisms and skeletal abnormalities. The minimal critical region includes two OMIM genes: ACTB and RNF216. Here, ...
What is involvement in research and what does it achieve? Reflections on a pilot study of the personal costs of stroke.
(2010-03)
BACKGROUND: Health researchers are encouraged to involve service users as partners in their research. There is a need to increase the evidence base of involvement, including an accumulation of empirical accounts of involvement ...
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
(2019-08)
OBJECTIVE: To identify disease-causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy. METHODS: We performed genome-wide sequencing, homozygosity mapping, ...
Compulsory psychiatric treatment checklist: Instrument development and clinical application.
(2017-09)
Instruments designed to evaluate the necessity of compulsory psychiatric treatment (CPT) are scarce to non-existent. We developed a 25-item Checklist (scoring 0 to 50) with four clusters (Legal, Danger, Historic and ...
Mineralocorticoid receptor antagonist pretreatment to MINIMISE reperfusion injury after ST-elevation myocardial infarction (the MINIMISE STEMI Trial): rationale and study design.
(2015-05)
Novel therapies capable of reducing myocardial infarct (MI) size when administered prior to reperfusion are required to prevent the onset of heart failure in ST-segment elevation myocardial infarction (STEMI) patients ...
Are IQ and educational outcomes in teenagers related to their cannabis use? A prospective cohort study.
(2016-02)
There is much debate about the impact of adolescent cannabis use on intellectual and educational outcomes. We investigated associations between adolescent cannabis use and IQ and educational attainment in a sample of 2235 ...
The economic burden of malaria on households and the health system in a high transmission district of Mozambique.
(2019-11-11)
BACKGROUND: Malaria remains a leading cause of morbidity and mortality in Mozambique. Increased investments in malaria control have reduced the burden, but few studies have estimated the costs of malaria in the country. ...
Demographic and geographical characteristics of pediatric trauma in Scotland.
(2013-07)
BACKGROUND: Trauma systems reduce mortality and improve functional outcomes. The aim of this study was to analyse the demographic and geospatial characteristics of pediatric trauma patients in Scotland, and determine the ...
Determinants of Socioeconomic Inequalities in Traumatic Dental Injuries among Urban Indian Adolescents
(Public Library of Science, 2015-10-19)
OBJECTIVES: To assess socioeconomic inequalities in traumatic dental injuries (TDIs) in adolescents in New Delhi and examine the role of material, psychosocial and behavioural factors in explaining these inequalities. ...